Suggested paradigm for initial and long-term management of individuals with cartilage-hair hypoplasia

CBC: complete blood count; IgG: immunoglobulin G; IgA: immunoglobulin A; IgM: immunoglobulin M; NK: natural killer; TREC: T cell receptor excision circle; SCID: severe combined immunodeficiency; CHH: cartilage-hair hypoplasia.
* Some patients with CHH may be identified through an abnormal TREC newborn screen that detects T cell defects.
¶ Our data suggest that many individuals with CHH can safely receive non-live vaccines during the first year of life. Live vaccines should be avoided in CHH patients with clinical and laboratory features concerning for immunodeficiency, an abnormal TREC newborn screen, or in those who clearly have combined immunodeficiency.